A large study is aiming to unlock the causes of inflammatory bowel disease.

With three brothers affected by either Crohn’s disease or ulcerative colitis, Kathleen Crispi knows she is at high risk of developing one of the literally gut-wrenching conditions known to run in families.

So about a year ago, she volunteered to take part in the largest-ever study of inflammatory bowel disease (IBD) — research that hopes to unlock the underlying cause of Crohn’s, with the ultimate goal of finding cures for both major forms of the condition.

The Canadian-led, international Genetic, Environmental, Microbial (GEM) project has just reached its target enrolment of 5,000 participants around the world, all unaffected children or siblings of people with either Crohn’s or colitis.

As its name suggests, the study is taking a multipronged approach to discovering what triggers underlie the development of the disease in the hopes of designing a predictive test and ultimately treatments to prevent its occurrence.

“Even getting to a stage of having biological markers or being able to identify people who are likely to develop the disease … would be a really big win out of this study,” said Crispi of Guelph, Ont., who has two brothers with ulcerative colitis and one with Crohn’s. An aunt on her mother’s side of the family also has colitis.

“Obviously, we know it runs in families,” said Crispi, 32. “I have two young children and I have two nephews and a niece, as well, so for us anything that would lead to earlier detection would be fantastic.

“But, of course, a cure would be amazing.”

Crohn’s and ulcerative colitis are autoimmune diseases which cause inflammation of the lining of the gastrointestinal tract, disrupting the body’s ability to digest food, absorb nutrition and properly eliminate waste. Symptoms include abdominal pain, cramping, gas, bloating, fatigue and diarrhea.

With Crohn’s, inflammation can occur anywhere in the GI tract but is usually present in the lower part of the small intestine and the colon, or large bowel. Ulcerative colitis affects only the colon, including the rectum and anus.

About 250,000 Canadians have IBD, which affects an estimated 10 million people worldwide. And its incidence is on the rise, said Mina Mawani, president and CEO of Crohn’s and Colitis Canada.

“These people have unbelievable pain, they have bloody diarrhea, they could be going to the bathroom up to 20 times a day,” said Mawani. “People feel that there’s a lot of stigma associated with a bathroom disease, so they don’t speak about it very often.

“But if you have to go to the washroom 20 times a day … you may not want to go to events, you may not be able to hold down a job. And if you do, you need to be close to a bathroom.

“It really is a socially isolating disease.”

Medications and in some cases surgery to remove chronically inflamed portions of the intestines can help keep IBD under control in 50 to 60 per cent of cases, “but we still haven’t cured anyone,” said Dr. Ken Croitoru, principal investigator of the GEM study, which began recruiting participants 10 years ago.

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